ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4714C>G (p.Pro1572Ala)

gnomAD frequency: 0.00001  dbSNP: rs753904877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994313 SCV002267621 uncertain significance Fanconi anemia 2021-07-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs753904877, ExAC 0.01%). This sequence change replaces proline with alanine at codon 1572 of the SLX4 protein (p.Pro1572Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.

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